Human Gene BLZF1 (ENST00000367808.8_4) from GENCODE V47lift37
  Description: basic leucine zipper nuclear factor 1, transcript variant 3 (from RefSeq NM_001320973.2)
Gencode Transcript: ENST00000367808.8_4
Gencode Gene: ENSG00000117475.14_8
Transcript (Including UTRs)
   Position: hg19 chr1:169,337,433-169,357,543 Size: 20,111 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:169,338,761-169,356,420 Size: 17,660 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:169,337,433-169,357,543)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GO45_HUMAN
DESCRIPTION: RecName: Full=Golgin-45; AltName: Full=Basic leucine zipper nuclear factor 1; AltName: Full=JEM-1; AltName: Full=p45 basic leucine-zipper nuclear factor;
FUNCTION: Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.
SUBUNIT: Interacts with GORASP2 and with the GTP-bound form of RAB2, but not with other Golgi Rab proteins. GORASP2 and BLZF1 form a RAB2 effector complex on medial Golgi.
SUBCELLULAR LOCATION: Golgi apparatus lumen.
SUBCELLULAR LOCATION: Isoform 1: Nucleus.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous. Also found in cell lines derived from several hematopoietic pathologies, such as T-cell leukemia, pro-B, pre-B, myeloma, and plasmacytoma cell lines, but not in Burkitt lymphoma cells.
INDUCTION: Up-regulated by retinoids.
DOMAIN: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
PTM: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP- ribosylated protein is recognized by RNF146, followed by ubiquitination.
PTM: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.
CAUTION: Because of the presence of a potential basic motif and leucine-zipper domain, PubMed:9129147 and PubMed:11056056 have thought that BLZF1 is a potential transcription factor. They found it localized in the nucleus, except isoform 2, which was cytoplasmic. However, homology at several typical position for basic or hydrophobic residues is missing.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BLZF1
Diseases sorted by gene-association score: paraneoplastic cerebellar degeneration (4), lissencephaly, x-linked (3), paraneoplastic pemphigus (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.15 RPKM in Testis
Total median expression: 250.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.60198-0.266 Picture PostScript Text
3' UTR -227.301123-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013183 - DUF1721_fun

Pfam Domains:
PF08227 - DASH complex subunit Hsk3 like

ModBase Predicted Comparative 3D Structure on Q9H2G9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007030 Golgi organization
GO:0008283 cell proliferation
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0043001 Golgi to plasma membrane protein transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005796 Golgi lumen


-  Descriptions from all associated GenBank mRNAs
  AF288161 - Homo sapiens JEM-1short protein (BLZF1) mRNA, complete cds.
U79751 - Human basic-leucine zipper nuclear factor (JEM-1) mRNA, complete cds.
AK223533 - Homo sapiens mRNA for basic leucine zipper nuclear factor 1 variant, clone: FCC124H06.
AK307151 - Homo sapiens cDNA, FLJ97099.
AK291725 - Homo sapiens cDNA FLJ75726 complete cds, highly similar to Homo sapiens basic leucine zipper nuclear factor 1 (JEM-1) (BLZF1), mRNA.
BC020716 - Homo sapiens basic leucine zipper nuclear factor 1, mRNA (cDNA clone MGC:22497 IMAGE:4723421), complete cds.
CU676660 - Synthetic construct Homo sapiens gateway clone IMAGE:100022314 5' read BLZF1 mRNA.
AB463429 - Synthetic construct DNA, clone: pF1KB8115, Homo sapiens BLZF1 gene for basic leucine zipper nuclear factor 1, without stop codon, in Flexi system.
DQ894557 - Synthetic construct Homo sapiens clone IMAGE:100009017; FLH176368.01L; RZPDo839C07121D basic leucine zipper nuclear factor 1 (JEM-1) (BLZF1) gene, encodes complete protein.
DQ891380 - Synthetic construct clone IMAGE:100004010; FLH176372.01X; RZPDo839C07122D basic leucine zipper nuclear factor 1 (JEM-1) (BLZF1) gene, encodes complete protein.
KJ892557 - Synthetic construct Homo sapiens clone ccsbBroadEn_01951 BLZF1 gene, encodes complete protein.
JD310190 - Sequence 291214 from Patent EP1572962.
JD239012 - Sequence 220036 from Patent EP1572962.
JD038274 - Sequence 19298 from Patent EP1572962.
JD235365 - Sequence 216389 from Patent EP1572962.
JD040325 - Sequence 21349 from Patent EP1572962.
JD279857 - Sequence 260881 from Patent EP1572962.
JD490472 - Sequence 471496 from Patent EP1572962.
JD521840 - Sequence 502864 from Patent EP1572962.
JD312911 - Sequence 293935 from Patent EP1572962.
JD315362 - Sequence 296386 from Patent EP1572962.
JD481626 - Sequence 462650 from Patent EP1572962.
JD359267 - Sequence 340291 from Patent EP1572962.
JD073323 - Sequence 54347 from Patent EP1572962.
JD236368 - Sequence 217392 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H2G9 (Reactome details) participates in the following event(s):

R-HSA-2422927 MAPK3-3 or MAPK1 phosphorylate GORASP2
R-HSA-162658 Golgi Cisternae Pericentriolar Stack Reorganization
R-HSA-68875 Mitotic Prophase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000367808.1, ENST00000367808.2, ENST00000367808.3, ENST00000367808.4, ENST00000367808.5, ENST00000367808.6, ENST00000367808.7, GO45_HUMAN, JEM1, NM_001320973, O15298, Q5T531, Q5T533, Q9GZX4, Q9H2G9, uc318gfg.1, uc318gfg.2
UCSC ID: ENST00000367808.8_4
RefSeq Accession: NM_001320973.2
Protein: Q9H2G9 (aka GO45_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.